Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation

Consortia: CTAR

Ortega HI, Udler MS, Gloyn AL, Sharp SA.
Nat Rev Endocrinol. 2025 Jun 4. doi: 10.1038/s41574-025-01132-w. Online ahead of print. PMID:40467969

All Isolation of live human δ cells for genetic and functional analysis Comprehensive molecular impact mapping of common and rare variants at GWAS loci 3D imaging of human pancreas suggests islet sizeand endocrine composition influence their loss intype 1 diabetes Single-Allele Chromatin Tracing Reveals Genomic Clustering of Paralogous Transcription Factors as a Mechanism for Developmental Robustness in T Cells RNA editing deficiency models differential immunogenicity of pancreatic α- and β-cells T cell and autoantibody recognition of nucleus-associated islet autoantigens in individuals with type 1 diabetes Solution mapping of MHC-I:TCR interactions using a minimalistic protein system Spatial transcriptomics from pancreas and local draining lymph node tissue reveals a lymphotoxin-β signature in human type 1 diabetes Optimizing Single-Cell Long-Read Sequencing for Enhanced Isoform Detection in Pancreatic Islets Searching for protein partners of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) reveals keratin 8 as a novel candidate for interaction in pancreatic β-cells Insulin post-transcriptional regulation via PARP12-mediated ADP- ribosylation 3D imaging of human pancreas suggests islet size and endocrine composition influence their loss in type 1 diabetes Developing a general AI model for integrating diverse genomic modalities and comprehensive genomic knowledge Diabetes mellitus polygenic risk scores: heterogeneity and clinical translation Increased inflammation as well as decreased endoplasmic reticulum stress and translation differentiate pancreatic islets from donors with pre-symptomatic stage 1 type 1 diabetes and non-diabetic donors Molecular and Inflammatory Etiologies of ß Cell Dysfunction in Type 1 Diabetes Engineered vasculature induces functional maturation of pluripotent stem cell-derived islet organoids Closing the Gap Between Vision and Victory in Type 1 Diabetes: The NIDDK Human Islet Research Network (HIRN) Initiative Advances in Cell Replacement Therapies for Diabetes Bend It Like Occam: Ductal Origin of New Islet Cells in Human Pancreas After Injury DEC1 Regulates Human β Cell Functional Maturation and Circadian Rhythm Chimeric anti-HLA antibody receptor engineered human regulatory T cells suppress alloantigen-specific B cells from pre-sensitized transplant recipients Type 1 diabetes presenting in adults: Trends, diagnostic challenges and unique features Exercise-induced meteorin-like protein protects human pancreatic beta cells from cytokine-induced apoptosis Oxygen dynamics and delivery strategies to enhance beta cell replacement therapy Efficient transduction of pancreas tissue slices with genetically encoded calcium integrators The type 1 diabetes candidate genes PTPN2 and BACH2 regulate novel IFN-α-induced crosstalk between the JAK/STAT and MAPKs pathways in human beta cells Genetic protection from type 1 diabetes resulting from accelerated insulin mRNA decay The epigenetic landscape of fate decisions in T cells Target Discovery to Diabetes Therapy-TXNIP From Bench to Bedside With NIDDK Islet single-cell transcriptomic profiling during obesity-induced beta cell expansion in female mice IFN-α Induces Heterogenous ROS Production in Human β-Cells Single-cell multiome and spatial profiling reveals pancreas cell type-specific gene regulatory programs driving type 1 diabetes progression The XCL1/XCR1 axis is upregulated in type 1 diabetes and aggravates its pathogenesis Expanding the engineered Treg multiverse TRAF6 integrates innate immune signals to regulate glucose homeostasis via Parkin-dependent and -independent mitophagy A Recombinase-Mediated Cassette Exchange Platform for a Triple Independent Inducible Expression System for Human Pluripotent Stem Cells Retrograde mitochondrial signaling governs the identity and maturity of metabolic tissues Identification of a vimentin-expressing α-cell phenotype in CF and normal pancreas Data from a multi-year targeted proteomics study of a longitudinal birth cohort of type 1 diabetes Generation of Human Chimeric Antigen Receptor Regulatory T Cells NKX2.2 and KLF4 cooperate to regulate α-cell identity Divergent roles of m(6)A in orchestrating brown and white adipocyte transcriptomes and systemic metabolism CryoEM structure of an MHC-I/TAPBPR peptide-bound intermediate reveals the mechanism of antigen proofreading BETA CELL DYSFUNCTION OCCURS INDEPENDENTLY OF INSULITIS IN TYPE 1 DIABETES PATHOGENESIS TMEM55A-mediated PI5P signaling regulates α-cell actin depolymerization and glucagon secretion Dissecting tumor transcriptional heterogeneity from single-cell RNA-seq data by generalized binary covariance decomposition The N6-methyladenosine RNA epigenetic modification modulates the amplification of coxsackievirus B1 in human pancreatic beta cells G6PC2 controls glucagon secretion by defining the set point for glucose in pancreatic α cells Changes in immunofluorescence staining during islet regeneration in a cystic fibrosis-related diabetes (CFRD) ferret model
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